A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328661



Internal ID22317130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79014084..79014084hg38UCSC Ensembl
chr6:79723801..79723801hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564616
Supporting Variants
SamplesNA19240
Known GenesPHIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14328661
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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